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| SNAPC1 | snRNA-activating protein complex subunit 1; Part of the SNAPc complex required for the transcription of both RNA polymerase II and III small-nuclear RNA genes. Binds to the proximal sequence element (PSE), a non-TATA-box basal promoter element common to these 2 types of genes. Recruits TBP and BRF2 to the U6 snRNA TATA box (368 aa) | |||
| DCTN6 | Dynactin subunit 6; Belongs to the dynactin subunits 5/6 family. Dynactin subunit 6 subfamily (190 aa) | |||
| ACTR10 | Actin related protein 10 homolog; Belongs to the actin family (417 aa) | |||
| CEP135 | Centrosomal protein of 135 kDa; Centrosomal protein involved in centriole biogenesis. Acts as a scaffolding protein during early centriole biogenesis. Required for the targeting of centriole satellite proteins to centrosomes such as of PCM1, SSX2IP and CEP290 and recruitment of WRAP73 to centrioles. Also required for centriole-centriole cohesion during interphase by acting as a platform protein for CEP250 at the centriole; Belongs to the CEP135/TSGA10 family (1140 aa) | |||
| DCTN3 | Dynactin subunit 3; Together with dynein may be involved in spindle assembly and cytokinesis; Dynactin (186 aa) | |||
| CSPP1 | Centrosome and spindle pole-associated protein 1; May play a role in cell-cycle-dependent microtubule organization (1221 aa) | |||
| PLK4 | Serine/threonine-protein kinase PLK4; Serine/threonine-protein kinase that plays a central role in centriole duplication. Able to trigger procentriole formation on the surface of the parental centriole cylinder, leading to the recruitment of centriole biogenesis proteins such as SASS6, CENPJ/CPAP, CCP110, CEP135 and gamma-tubulin. When overexpressed, it is able to induce centrosome amplification through the simultaneous generation of multiple procentrioles adjoining each parental centriole during S phase. Phosphorylates ’Ser-151’ of FBXW5 during the G1/S transition, leading to inhibit [...] (970 aa) | |||
| ACTR1B | Beta-centractin; Component of a multi-subunit complex involved in microtubule based vesicle motility. It is associated with the centrosome; Actin related proteins (376 aa) | |||
| DCTN5 | Dynactin subunit 5; Belongs to the dynactin subunits 5/6 family. Dynactin subunit 5 subfamily (182 aa) | |||
| XRCC6BP1 | Mitochondrial inner membrane protease ATP23 homolog; XRCC6 binding protein 1; Belongs to the peptidase M76 family (246 aa) | |||
| HOMER2 | Homer protein homolog 2; Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoforms can be differently regulated and may play an important role in maintaining the plasticity at glutamatergic synapses. Required for normal hearing; Deafness associated genes (354 aa) | |||
| CPNE8 | Copine-8; Probable calcium-dependent phospholipid-binding protein that may play a role in calcium-mediated intracellular processes; Copines (564 aa) | |||
| HOMER1 | Homer protein homolog 1; Postsynaptic density scaffolding protein. Binds and cross-links cytoplasmic regions of GRM1, GRM5, ITPR1, DNM3, RYR1, RYR2, SHANK1 and SHANK3. By physically linking GRM1 and GRM5 with ER-associated ITPR1 receptors, it aids the coupling of surface receptors to intracellular calcium release. May also couple GRM1 to PI3 kinase through its interaction with AGAP2. Isoform 1 regulates the trafficking and surface expression of GRM5. Isoform 3 acts as a natural dominant negative, in dynamic competition with constitutively expressed isoform 1 to regulate synaptic metabo [...] (354 aa) | |||
| OFD1 | Oral-facial-digital syndrome 1 protein; Component of the centrioles controlling mother and daughter centrioles length. Recruits to the centriole IFT88 and centriole distal appendage-specific proteins including CEP164. Involved in the biogenesis of the cilium, a centriole-associated function. The cilium is a cell surface projection found in many vertebrate cells required to transduce signals important for development and tissue homeostasis. Plays an important role in development by regulating Wnt signaling and the specification of the left-right axis. Only OFD1 localized at the centriol [...] (1012 aa) | |||
| PXDNL | Peroxidasin-like protein; Isoform PMR1- Endonuclease selectively degrading some target mRNAs while they are engaged by translating ribosomes, among which albumin and beta-globin mRNAs; I-set domain containing (1463 aa) | |||
| CAPZA2 | F-actin-capping protein subunit alpha-2; F-actin-capping proteins bind in a Ca(2+)-independent manner to the fast growing ends of actin filaments (barbed end) thereby blocking the exchange of subunits at these ends. Unlike other capping proteins (such as gelsolin and severin), these proteins do not sever actin filaments (286 aa) | |||
| FGFR1OP | FGFR1 oncogene partner; Required for anchoring microtubules to the centrosomes. Required for ciliation (399 aa) | |||
| NME7 | Nucleoside diphosphate kinase 7; Major role in the synthesis of nucleoside triphosphates other than ATP. The ATP gamma phosphate is transferred to the NDP beta phosphate via a ping-pong mechanism, using a phosphorylated active-site intermediate; Cilia and flagella associated (376 aa) | |||
| RPGRIP1L | Protein fantom; Negatively regulates signaling through the G-protein coupled thromboxane A2 receptor (TBXA2R). May be involved in mechanisms like programmed cell death, craniofacial development, patterning of the limbs, and formation of the left- right axis (By similarity). Involved in the organization of apical junctions; the function is proposed to implicate a NPHP1-4-8 module. Does not seem to be strictly required for ciliogenesis. Involved in establishment of planar cell polarity such as in cochlear sensory epithelium and is proposed to implicate stabilization of disheveled protein [...] (1315 aa) | |||
| LCA5 | Lebercilin; Might be involved in minus end-directed microtubule transport (697 aa) | |||
| RPGRIP1 | X-linked retinitis pigmentosa GTPase regulator-interacting protein 1; May function as scaffolding protein. Required for normal location of RPGR at the connecting cilium of photoreceptor cells. Required for normal disk morphogenesis and disk organization in the outer segment of photoreceptor cells and for survival of photoreceptor cells; Belongs to the RPGRIP1 family (1286 aa) | |||
| DCTN2 | Dynactin subunit 2; Modulates cytoplasmic dynein binding to an organelle, and plays a role in prometaphase chromosome alignment and spindle organization during mitosis. Involved in anchoring microtubules to centrosomes. May play a role in synapse formation during brain development; Dynactin (406 aa) | |||
| DCTN4 | Dynactin subunit 4; Could have a dual role in dynein targeting and in ACTR1A/Arp1 subunit of dynactin pointed-end capping. Could be involved in ACTR1A pointed-end binding and in additional roles in linking dynein and dynactin to the cortical cytoskeleton (467 aa) | |||
| CCDC14 | Coiled-coil domain-containing protein 14; Negatively regulates centriole duplication. Negatively regulates CEP63 and CDK2 centrosomal localization (912 aa) | |||
| KLHL13 | Kelch-like protein 13; Substrate-specific adapter of a BCR (BTB-CUL3-RBX1) E3 ubiquitin-protein ligase complex required for mitotic progression and cytokinesis. The BCR(KLHL9-KLHL13) E3 ubiquitin ligase complex mediates the ubiquitination of AURKB and controls the dynamic behavior of AURKB on mitotic chromosomes and thereby coordinates faithful mitotic progression and completion of cytokinesis; BTB domain containing (658 aa) | |||
| GAN | Gigaxonin; Probable cytoskeletal component that directly or indirectly plays an important role in neurofilament architecture. May act as a substrate-specific adapter of an E3 ubiquitin-protein ligase complex which mediates the ubiquitination and subsequent proteasomal degradation of target proteins. Controls degradation of TBCB. Controls degradation of MAP1B and MAP1S, and is critical for neuronal maintenance and survival; BTB domain containing (597 aa) | |||
